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Volumn 16, Issue 6, 1996, Pages 559-563

First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family

Author keywords

Chorionic villus sampling; Infantile hypophosphatasia; Polymerase chain reaction; Prenatal diagnosis; Tissue non specific alkaline phosphatase

Indexed keywords

OLIGONUCLEOTIDE;

EID: 0030014195     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199606)16:6<559::AID-PD897>3.0.CO;2-A     Document Type: Article
Times cited : (34)

References (14)
  • 1
    • 0025766004 scopus 로고
    • First-trimester prenatal diagnosis of hypophosphatasia: Experience with 16 cases
    • Brock, D.J.H., Barron, L. (1991). First-trimester prenatal diagnosis of hypophosphatasia: experience with 16 cases, Prenat. Diagn., 11, 387-391.
    • (1991) Prenat. Diagn. , vol.11 , pp. 387-391
    • Brock, D.J.H.1    Barron, L.2
  • 4
    • 0026713191 scopus 로고
    • Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia
    • Henthorn, P.S., Raducha, M., Fedde, K.N., Lafferty, M.A., Whyte, M.P. (1992). Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia, Proc. Natl. Acad Sci. USA, 89, 9924-9928.
    • (1992) Proc. Natl. Acad Sci. USA , vol.89 , pp. 9924-9928
    • Henthorn, P.S.1    Raducha, M.2    Fedde, K.N.3    Lafferty, M.A.4    Whyte, M.P.5
  • 5
    • 85016750763 scopus 로고
    • Simple and rapid preparation of samples for PCR
    • Erlich, H.A. (Ed.). New York: Stockton Press
    • Higuchi, R. (1989). Simple and rapid preparation of samples for PCR. In: Erlich, H.A. (Ed.). PCR Technology: Principles and Applications for DNA Amplification, New York: Stockton Press, 31-38.
    • (1989) PCR Technology: Principles and Applications for DNA Amplification , pp. 31-38
    • Higuchi, R.1
  • 7
    • 0025820116 scopus 로고
    • First-trimester diagnosis of hypophosphatasia. Importance of gestational age and of purity of CV samples
    • Muller, F., Oury, J.F., Bussière, P., Lewin, F., Boué, J. (1991). First-trimester diagnosis of hypophosphatasia. Importance of gestational age and of purity of CV samples, Prenat. Diagn., 11, 725-730.
    • (1991) Prenat. Diagn. , vol.11 , pp. 725-730
    • Muller, F.1    Oury, J.F.2    Bussière, P.3    Lewin, F.4    Boué, J.5
  • 8
    • 0028024690 scopus 로고
    • Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia
    • Orimo, H., Hayashi, Z., Watanabe, A., Hirayama, T., Hirayama, T., Shimada, T. (1994). Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia. Hum. Mol. Genet., 3, 1683-1684.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1683-1684
    • Orimo, H.1    Hayashi, Z.2    Watanabe, A.3    Hirayama, T.4    Hirayama, T.5    Shimada, T.6
  • 9
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita, M., Suzuki, Y., Sekiya, T., Hayashi, K. (1989). Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction, Genomics, 5, 874-879.
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 11
    • 0022345468 scopus 로고
    • First trimester diagnosis of hypophosphatasia with a monoclonal antibody to the liver/bone/kidney isoenzyme of alkaline phosphatase
    • Warren, R.C., McKenzie, C.F., Rodeck, C.H., Moscoso, G., Brock, D.J.H., Barren, L. (1985). First trimester diagnosis of hypophosphatasia with a monoclonal antibody to the liver/bone/kidney isoenzyme of alkaline phosphatase. Lancet, ii, 856-858.
    • (1985) Lancet , vol.2 , pp. 856-858
    • Warren, R.C.1    McKenzie, C.F.2    Rodeck, C.H.3    Moscoso, G.4    Brock, D.J.H.5    Barren, L.6
  • 12
    • 0023696449 scopus 로고
    • Structure of the human liver/bone/kidney alkaline phosphatase gene
    • Weiss, M.J., Ray, K., Henthorn, P.S., Lamb, B., Kadesch, T., Harris, H. (1988a). Structure of the human liver/bone/kidney alkaline phosphatase gene, J. Biol. Chem., 263, 12002-12010.
    • (1988) J. Biol. Chem. , vol.263 , pp. 12002-12010
    • Weiss, M.J.1    Ray, K.2    Henthorn, P.S.3    Lamb, B.4    Kadesch, T.5    Harris, H.6
  • 13
    • 0011322884 scopus 로고
    • A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia
    • Weiss, M.J., Cole, D.E., Ray, K., Whyte, M.P., Lafferty, M.A., Mulivor, R.A., Harris, H. (1988b). A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia, Proc. Natl. Acad. Sci. USA, 85, 7666-7669.
    • (1988) Proc. Natl. Acad. Sci. USA , vol.85 , pp. 7666-7669
    • Weiss, M.J.1    Cole, D.E.2    Ray, K.3    Whyte, M.P.4    Lafferty, M.A.5    Mulivor, R.A.6    Harris, H.7
  • 14
    • 0001594259 scopus 로고
    • Hypophosphatasia
    • Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D. (Eds). New York: McGraw-Hill
    • Whyte, M.P. (1995). Hypophosphatasia. In: Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D. (Eds). The Metabolic and Molecular Bases of Inherited Disease, 7th edn. Vol. 3, New York: McGraw-Hill, 4095-4111.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Edn. , vol.3 , pp. 4095-4111
    • Whyte, M.P.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.